Mtor MGI Mouse Gene Detail - MGI:1928394 - mechanistic target of rapamycin kinase

Symbol

Mtor
Name

mechanistic target of rapamycin kinase
Synonyms

2610315D21Rik, FKBP-rapamycin-associated protein FRAP, flat, Frap1, mechanistic target of rapamycin (serine/threonine kinase), RAFT1, RAPT1

Feature Type

protein coding gene
IDs

MGI:1928394
NCBI Gene: 56717
Alliance

gene page
Transcription Start Sites

7 TSS
Candidate for QTL

1 QTL

Sequence Map

Chr4:148533068-148642140 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 78.76 cM, cytoband E1
Mapping Data

5 experiments

SNPs within 2kb

1086 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1928394	protein coding gene	Chr4:148533039-148642142 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029124	protein coding gene	Chr4:152170645-152295202 (+)
A/J	MGP_AJ_G0029089	protein coding gene	Chr4:145879739-145991499 (+)
AKR/J	MGP_AKRJ_G0029037	protein coding gene	Chr4:149852250-149965129 (+)
BALB/cJ	MGP_BALBcJ_G0029105	protein coding gene	Chr4:146384661-146494135 (+)
C3H/HeJ	MGP_C3HHeJ_G0028826	protein coding gene	Chr4:150414964-150528095 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029554	protein coding gene	Chr4:157706034-157823354 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026800	protein coding gene	Chr4:138297564-138408609 (+)
CAST/EiJ	MGP_CASTEiJ_G0028239	protein coding gene	Chr4:147621406-147736927 (+)
CBA/J	MGP_CBAJ_G0028788	protein coding gene	Chr4:162275603-162396987 (+)
DBA/2J	MGP_DBA2J_G0028937	protein coding gene	Chr4:145984756-146096191 (+)
FVB/NJ	MGP_FVBNJ_G0028901	protein coding gene	Chr4:145078006-145188406 (+)
LP/J	MGP_LPJ_G0029027	protein coding gene	Chr4:152136498-152247578 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028928	protein coding gene	Chr4:165602680-165716818 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029586	protein coding gene	Chr4:150336631-150452492 (+)
PWK/PhJ	MGP_PWKPhJ_G0027959	protein coding gene	Chr4:141974157-142087326 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027793	protein coding gene	Chr4:144597471-144708849 (+)
WSB/EiJ	MGP_WSBEiJ_G0028319	protein coding gene	Chr4:150504607-150620787 (+)

Human Ortholog

MTOR, mechanistic target of rapamycin kinase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MTOR, mechanistic target of rapamycin kinase
Synonyms

FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS
Links

HGNC:3942

NCBI Gene ID: 2475

neXtProt AC: NX_P42345

UniProt: P42345
Chr Location

1p36.22; chr1:11106535-11262556 (-) GRCh38

MGI Vertebrate Homology

Mtor stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MTOR
Gene Tree

Mtor

Diseases

6 with human MTOR associations

				Human Disease	Mouse Models
				autosomal dominant polycystic kidney disease IDs autosomal dominant polycystic kidney disease DOID:898 ICD10CM:Q61.3 ICD9CM:753.12 MESH:D007690 NCI:C75464 ORDO:730 UMLS_CUI:C0022680
				idiopathic interstitial pneumonia IDs idiopathic interstitial pneumonia DOID:2797 ICD10CM:J84.114 ICD9CM_2006:516.3 MESH:D000080203 UMLS_CUI:C0085786
				kidney angiomyolipoma IDs kidney angiomyolipoma DOID:8411 NCI:C3888 UMLS_CUI:C0241961
				lung small cell carcinoma IDs lung small cell carcinoma DOID:5409 KEGG:05222 MESH:D055752 NCI:C4917 OMIM:182280 UMLS_CUI:C0149925
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358
				type 2 diabetes mellitus IDs type 2 diabetes mellitus DOID:9352 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 UMLS_CUI:C0011860

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

135 phenotypes from 14 alleles in 15 genetic backgrounds
12 phenotypes from multigenic genotypes
2 images
164 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

41
Chemically induced (ENU)

2
Endonuclease-mediated

5
Gene trapped

15
Targeted

19
Genomic Mutations

1 involving Mtor
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

115 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for targeted, gene trap and ENU-induced null alleles exhibit embryonic lethality by E12.5 with abnormal embryogenesis. Mice homozygous for the ENU mutation further exhibit abnormal brain development.

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All GO Annotations

275
GO References

72

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

941
Tissues

83
cDNA Data

147
Literature Summary

87

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mtor

ZFIN mtor

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All Sequences

46
RefSeq

4
UniProt

2
CCDS

CCDS18937.1

Ensembl

ENSMUSG00000028991 (Evidence)
NCBI Gene

56717

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028991	Ensembl Gene Model \| MGI Sequence Detail	109073	C57BL/6J	± kb
transcript	ENSMUST00000103221	Ensembl \| MGI Sequence Detail	8564	Not Applicable
polypeptide	ENSMUSP00000099510	Ensembl \| MGI Sequence Detail	2549	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003041 serine/threonine-protein kinase mTOR

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR050517 DNA Damage Response and Repair Kinase

IPR003152 FATC domain

IPR009076 FKBP12-rapamycin binding domain

IPR036738 FKBP12-rapamycin binding domain superfamily

IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain

IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily

IPR018936 Phosphatidylinositol 3/4-kinase, conserved site

IPR014009 PIK-related kinase

IPR003151 PIK-related kinase, FAT

IPR011009 Protein kinase-like domain superfamily

IPR024585 Serine/threonine-protein kinase mTOR domain

IPR026683 Serine/threonine-protein kinase TOR, catalytic domain

IPR011990 Tetratricopeptide-like helical domain superfamily
GlyGen

Q9JLN9 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 153

cDNA 148

Primer pair 5

Microarray probesets 5

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MGI:1332655, MGI:1919780, MGI:2140250

Summaries

All 854

Developmental Gene Expression 87

Gene Ontology 72

Phenotypes 164
Earliest

J:155370 Cohen JS, Provide fluoxetine information vital to clinicians. J Clin Psychiatry. 1995 Dec;56(12):591
Latest

J:354208 Dong MZ, et al., Protein phosphatase 4 maintains the survival of primordial follicles by regulating autophagy in oocytes. Cell Death Dis. 2024 Sep 8;15(9):658

TSS for Mtor:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40273	Chr4:148533009-148533020 (+)	-53 bp
Tssr40274	Chr4:148533021-148533055 (+)	-30 bp
Tssr40275	Chr4:148533062-148533094 (+)	10 bp
Tssr40276	Chr4:148557571-148557576 (+)	24,506 bp
Tssr40277	Chr4:148580947-148580951 (+)	47,881 bp
Tssr40278	Chr4:148595931-148595957 (+)	62,876 bp
Tssr40279	Chr4:148620787-148620828 (+)	87,740 bp

Mtor is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Pctr2	Chr4, syntenic		J:86978	A Congenic strain between BALB/cAn and DBA/2N ( C.D2-Fv1B) was constructed to exclude Xmv8 and Xmv44 from consideration as candidates for Pctr2. Using C.D2-Fv1B the authors were able to refine the region containing Pctr2 to D4Mit310 and D4Mit129. Further a region 86 kb distal of Fbxo6b was identified as the proximal interval of Pctr2. Using the MIT markers BAC clones were isolated for the purpose of identifying polymorphisms in genes that could be potential candidates for Pctr2. Polymorphisms between BALB/cAn and DBA/2N resulting in AA changes in the Frap1 genes are suggestive as causative of the Pctr2 phenotype.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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